This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Asp76Glu
CA374931719
NM_001374312.2:c.228C>A
CA374931720
NM_001374312.2:c.228C>G